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@ARTICLE{Rafiullah:181275,
      author       = {R. Rafiullah and A. B. Long and A. A. Ivanova and H. Ali
                      and S. Berkel and G. Mustafa and N. Paramasivam and M.
                      Schlesner$^*$ and S. Wiemann$^*$ and R. C. Wade and E.
                      Bolthauser and M. Blum and R. A. Kahn and T. Caspary and G.
                      A. Rappold},
      title        = {{A} novel homozygous {ARL}13{B} variant in patients with
                      {J}oubert syndrome impairs its guanine nucleotide-exchange
                      factor activity.},
      journal      = {European journal of human genetics},
      volume       = {25},
      number       = {12},
      issn         = {1018-4813},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DKFZ-2022-01918},
      pages        = {1324 - 1334},
      year         = {2017},
      note         = {DKFZ-ZMBH Alliance},
      abstract     = {ARL13B encodes for the ADP-ribosylation factor-like 13B
                      GTPase, which is required for normal cilia structure and
                      Sonic hedgehog (Shh) signaling. Disruptions in cilia
                      structure or function lead to a class of human disorders
                      called ciliopathies. Joubert syndrome is characterized by a
                      wide spectrum of symptoms, including a variable degree of
                      intellectual disability, ataxia, and ocular abnormalities.
                      Here we report a novel homozygous missense variant
                      c.[223G>A] (p.(Gly75Arg) in the ARL13B gene, which was
                      identified by whole-exome sequencing of a trio from a
                      consanguineous family with multiple-affected individuals
                      suffering from intellectual disability, ataxia, ocular
                      defects, and epilepsy. The same variant was also identified
                      in a second family. We saw a striking difference in the
                      severity of ataxia between affected male and female
                      individuals in both families. Both ARL13B and
                      ARL13B-c.[223G>A] (p.(Gly75Arg) expression rescued the cilia
                      length and Shh defects displayed by Arl13b hennin (null)
                      cells, indicating that the variant did not disrupt either
                      ARL13B function. In contrast, ARL13B-c.[223G>A]
                      (p.(Gly75Arg) displayed a marked loss of ARL3 guanine
                      nucleotide-exchange factor activity, with retention of its
                      GTPase activities, highlighting the correlation between its
                      loss of function as an ARL3 guanine nucleotide-exchange
                      factor and Joubert syndrome.},
      keywords     = {ADP-Ribosylation Factors: genetics / ADP-Ribosylation
                      Factors: metabolism / Abnormalities, Multiple: diagnosis /
                      Abnormalities, Multiple: genetics / Adolescent / Adult /
                      Animals / Cell Line, Tumor / Cells, Cultured / Cerebellum:
                      abnormalities / Child / Eye Abnormalities: diagnosis / Eye
                      Abnormalities: genetics / Female / Guanosine Triphosphate:
                      metabolism / Homozygote / Humans / Kidney Diseases, Cystic:
                      diagnosis / Kidney Diseases, Cystic: genetics / Loss of
                      Function Mutation / Male / Mice / Mutation, Missense /
                      Pedigree / Retina: abnormalities / Guanosine Triphosphate
                      (NLM Chemicals) / ADP-Ribosylation Factors (NLM Chemicals) /
                      Arl13b protein, human (NLM Chemicals)},
      cin          = {B080 / W110},
      ddc          = {610},
      cid          = {I:(DE-He78)B080-20160331 / I:(DE-He78)W110-20160331},
      pnm          = {312 - Functional and structural genomics (POF3-312)},
      pid          = {G:(DE-HGF)POF3-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29255182},
      pmc          = {pmc:PMC5865152},
      doi          = {10.1038/s41431-017-0031-0},
      url          = {https://inrepo02.dkfz.de/record/181275},
}